Incidental Mutation 'R7440:Acadm'
ID 576875
Institutional Source Beutler Lab
Gene Symbol Acadm
Ensembl Gene ENSMUSG00000062908
Gene Name acyl-Coenzyme A dehydrogenase, medium chain
Synonyms MCAD
MMRRC Submission 045516-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7440 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 153922357-153944632 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 153922989 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 403 (T403I)
Ref Sequence ENSEMBL: ENSMUSP00000072483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072697]
AlphaFold P45952
Predicted Effect probably damaging
Transcript: ENSMUST00000072697
AA Change: T403I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072483
Gene: ENSMUSG00000062908
AA Change: T403I

Pfam:Acyl-CoA_dh_N 42 152 2e-27 PFAM
Pfam:Acyl-CoA_dh_M 157 255 2.3e-26 PFAM
Pfam:Acyl-CoA_dh_1 267 416 1.7e-48 PFAM
Pfam:Acyl-CoA_dh_2 283 405 2.1e-19 PFAM
Meta Mutation Damage Score 0.9740 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (69/69)
MGI Phenotype FUNCTION: This gene encodes a homotetrameric mitochondrial flavoprotein and is a member of the acyl-CoA dehydrogenase family. Members of this family catalyze the first step of fatty acid beta-oxidation, forming a C2-C3 trans-double bond in a FAD-dependent reaction. As beta-oxidation cycles through its four steps, each member of the acyl-CoA dehydrogenase family works at an optimum fatty acid chain-length. This enzyme has its optimum length between C6- and C12-acylCoA. In mice, deficiency of this gene can cause neonatal mortality as well as fasting and cold intolerance. This gene has multiple, intronless pseudogenes. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele display a high degree of postnatal lethality, develop an organic aciduria, fatty liver and an unexpected diffuse cardiomyopathy with multifocal myocyte degeneration and necrosis, and show severe cold intolerance with prior fasting. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032A03Rik A G 9: 50,764,913 (GRCm38) V35A probably benign Het
9230104L09Rik A C 2: 148,846,991 (GRCm38) C109W probably damaging Het
Adat1 A T 8: 111,989,898 (GRCm38) M64K probably damaging Het
Adcy2 C T 13: 68,796,667 (GRCm38) V199M probably damaging Het
Ankrd13a T C 5: 114,803,575 (GRCm38) S508P possibly damaging Het
Ap1g1 T A 8: 109,802,724 (GRCm38) probably null Het
Bicral C T 17: 46,825,784 (GRCm38) G167R probably damaging Het
Ccser2 T C 14: 36,898,217 (GRCm38) K727E possibly damaging Het
Cep350 T G 1: 155,940,772 (GRCm38) K332N probably damaging Het
Chd5 A G 4: 152,384,651 (GRCm38) N1811S probably benign Het
Chpf A T 1: 75,475,601 (GRCm38) V565D probably damaging Het
Clcn6 A T 4: 148,014,195 (GRCm38) L489H probably damaging Het
Cntln C A 4: 85,063,216 (GRCm38) T877K possibly damaging Het
Cog4 T C 8: 110,879,706 (GRCm38) V630A probably benign Het
Col6a5 G T 9: 105,881,431 (GRCm38) S2192* probably null Het
Cry2 G A 2: 92,413,638 (GRCm38) R397W probably damaging Het
Cyp1b1 T C 17: 79,713,557 (GRCm38) N252S probably damaging Het
Dhx9 T C 1: 153,481,231 (GRCm38) I91V probably benign Het
Dnajb6 G A 5: 29,757,859 (GRCm38) A256T possibly damaging Het
Epm2a T G 10: 11,390,875 (GRCm38) Y121* probably null Het
Erlec1 T C 11: 30,950,818 (GRCm38) I117V possibly damaging Het
Exoc8 T C 8: 124,895,781 (GRCm38) M616V probably benign Het
Fmn1 A T 2: 113,441,611 (GRCm38) Q108L unknown Het
Fuz T C 7: 44,896,572 (GRCm38) L46P probably damaging Het
Gm15319 C T 8: 20,356,948 (GRCm38) S254N unknown Het
Insc T C 7: 114,845,043 (GRCm38) S422P possibly damaging Het
Intu A G 3: 40,697,551 (GRCm38) I813V probably benign Het
Jak3 T A 8: 71,680,718 (GRCm38) S352T probably benign Het
Klf11 T C 12: 24,655,491 (GRCm38) S315P probably benign Het
Lrrc63 T C 14: 75,121,013 (GRCm38) N400D possibly damaging Het
Lrrk1 T C 7: 66,290,854 (GRCm38) D760G probably damaging Het
Macf1 A T 4: 123,455,446 (GRCm38) L3976* probably null Het
Map7 C T 10: 20,261,859 (GRCm38) A259V probably damaging Het
Meioc T A 11: 102,674,237 (GRCm38) D170E possibly damaging Het
Mgat5b T A 11: 116,968,445 (GRCm38) Y34* probably null Het
Mgst1 A G 6: 138,150,844 (GRCm38) K68R probably benign Het
Miga1 T A 3: 152,338,046 (GRCm38) probably null Het
Mrps33 G A 6: 39,802,479 (GRCm38) P94L probably damaging Het
Ncapg2 G T 12: 116,450,413 (GRCm38) G1068C possibly damaging Het
Ndufaf7 C T 17: 78,942,117 (GRCm38) H148Y probably damaging Het
Nkx6-3 A T 8: 23,153,754 (GRCm38) D57V probably damaging Het
Nlrp1a T C 11: 71,092,324 (GRCm38) D1272G probably damaging Het
Oit3 T C 10: 59,429,570 (GRCm38) N291S probably damaging Het
Olfr362 A T 2: 37,105,169 (GRCm38) H160Q possibly damaging Het
Pld1 T G 3: 28,041,270 (GRCm38) S251A probably benign Het
Ppfibp1 T C 6: 147,019,503 (GRCm38) S580P probably benign Het
Prdx6b A T 2: 80,293,216 (GRCm38) D123V probably damaging Het
Ptprs A G 17: 56,424,256 (GRCm38) L1050P possibly damaging Het
Rcc1 A C 4: 132,337,799 (GRCm38) S138A probably damaging Het
Rimbp3 G T 16: 17,213,201 (GRCm38) R1496S possibly damaging Het
Sacs T C 14: 61,191,605 (GRCm38) V371A probably benign Het
Sfxn4 A G 19: 60,842,204 (GRCm38) L260P possibly damaging Het
Slc17a1 G A 13: 23,878,483 (GRCm38) S211N possibly damaging Het
Slc39a11 C T 11: 113,562,092 (GRCm38) V8M probably damaging Het
Smpd2 A G 10: 41,489,016 (GRCm38) I78T probably benign Het
Steap3 A C 1: 120,241,518 (GRCm38) F350V probably benign Het
Syt17 A T 7: 118,381,884 (GRCm38) V462E probably damaging Het
Tlr11 T A 14: 50,361,344 (GRCm38) D262E probably benign Het
Tnfrsf9 T C 4: 150,929,874 (GRCm38) V10A probably benign Het
Trpv3 C A 11: 73,277,974 (GRCm38) Q87K probably benign Het
Ugt1a5 T C 1: 88,166,559 (GRCm38) Y170H probably benign Het
Urb1 A G 16: 90,787,408 (GRCm38) L562P probably damaging Het
Usp3 G T 9: 66,530,255 (GRCm38) N299K probably benign Het
Vmn1r83 T C 7: 12,321,629 (GRCm38) Y167C probably damaging Het
Vmn2r117 T A 17: 23,475,565 (GRCm38) Y436F probably benign Het
Vps13d A G 4: 145,128,411 (GRCm38) I2220T Het
Zfp936 T A 7: 43,187,261 (GRCm38) V32D probably damaging Het
Znrd1 T A 17: 36,957,844 (GRCm38) L75F probably benign Het
Zswim2 A G 2: 83,920,719 (GRCm38) C259R probably damaging Het
Other mutations in Acadm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02452:Acadm APN 3 153,941,970 (GRCm38) missense probably damaging 1.00
IGL02598:Acadm APN 3 153,938,544 (GRCm38) splice site probably benign
IGL02642:Acadm APN 3 153,939,083 (GRCm38) missense probably damaging 1.00
R0092:Acadm UTSW 3 153,941,875 (GRCm38) splice site probably benign
R0270:Acadm UTSW 3 153,936,324 (GRCm38) missense possibly damaging 0.89
R1543:Acadm UTSW 3 153,929,572 (GRCm38) missense probably damaging 1.00
R1868:Acadm UTSW 3 153,930,252 (GRCm38) missense probably benign 0.03
R1955:Acadm UTSW 3 153,929,551 (GRCm38) missense probably damaging 0.97
R2281:Acadm UTSW 3 153,933,043 (GRCm38) missense possibly damaging 0.75
R3774:Acadm UTSW 3 153,933,097 (GRCm38) missense probably benign
R4768:Acadm UTSW 3 153,922,942 (GRCm38) missense probably benign 0.00
R4994:Acadm UTSW 3 153,929,584 (GRCm38) missense probably damaging 1.00
R5194:Acadm UTSW 3 153,933,118 (GRCm38) missense possibly damaging 0.63
R5523:Acadm UTSW 3 153,938,636 (GRCm38) missense probably benign 0.13
R5927:Acadm UTSW 3 153,939,108 (GRCm38) missense probably damaging 1.00
R6109:Acadm UTSW 3 153,941,943 (GRCm38) missense probably damaging 1.00
R6223:Acadm UTSW 3 153,938,549 (GRCm38) splice site probably null
R6896:Acadm UTSW 3 153,936,320 (GRCm38) missense probably damaging 0.99
R7108:Acadm UTSW 3 153,925,800 (GRCm38) nonsense probably null
R7182:Acadm UTSW 3 153,941,881 (GRCm38) critical splice donor site probably null
R7334:Acadm UTSW 3 153,939,061 (GRCm38) nonsense probably null
R7882:Acadm UTSW 3 153,938,613 (GRCm38) nonsense probably null
R8170:Acadm UTSW 3 153,944,398 (GRCm38) missense possibly damaging 0.93
R8405:Acadm UTSW 3 153,929,528 (GRCm38) splice site probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-10-07